MCID: UNL002
MIFTS: 37

Unilateral Retinoblastoma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Unilateral Retinoblastoma

MalaCards integrated aliases for Unilateral Retinoblastoma:

Name: Unilateral Retinoblastoma 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:4651
NCIt 50 C8714
UMLS 70 C0854915

Summaries for Unilateral Retinoblastoma

Disease Ontology : 12 A retinoblastoma that effects only one eye.

MalaCards based summary : Unilateral Retinoblastoma is related to intraocular retinoblastoma and familial retinoblastoma. An important gene associated with Unilateral Retinoblastoma is RB1 (RB Transcriptional Corepressor 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and PI3K-Akt signaling pathway. The drugs Vincristine and Etoposide have been mentioned in the context of this disorder. Affiliated tissues include eye, pineal and spinal cord, and related phenotypes are cellular and craniofacial

Related Diseases for Unilateral Retinoblastoma

Diseases related to Unilateral Retinoblastoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 intraocular retinoblastoma 30.3 MYCN MDM4
2 familial retinoblastoma 29.8 RBL1 RB1 E2F3
3 retinoblastoma 29.4 RBL2 RBL1 RB1 MYCN MDM4 LPAR6
4 bilateral retinoblastoma 29.0 VSX2 RBL2 RBL1 RB1 MYCN MDM4
5 tumor predisposition syndrome 10.2
6 cutaneous telangiectasia and cancer syndrome, familial 10.2
7 inherited cancer-predisposing syndrome 10.2
8 retinal detachment 10.1
9 hypotrichosis 8 10.0 RB1 LPAR6
10 strabismus 10.0
11 osteogenic sarcoma 10.0
12 pineoblastoma 10.0
13 teratoma 10.0
14 mechanical strabismus 10.0
15 papilloma 10.0 RBL2 RBL1 RB1
16 leukocoria 9.9 VSX2 RB1 LPAR6
17 nervous system cancer 9.9 RBL1 RB1 MYCN
18 hypotrichosis simplex 9.8 RB1 LPAR6
19 li-fraumeni syndrome 9.8 RB1 MYCN MDM4
20 exudative vitreoretinopathy 1 9.8
21 melanoma, uveal 9.8
22 nondisjunction 9.8
23 teratoma, ovarian 9.8
24 peters-plus syndrome 9.8
25 coats disease 9.8
26 ewing sarcoma 9.8
27 sarcoma 9.8
28 neovascular glaucoma 9.8
29 optic nerve disease 9.8
30 melanoma 9.8
31 leydig cell tumor 9.8
32 rhabdomyosarcoma 9.8
33 olfactory neuroblastoma 9.8
34 hermansky-pudlak syndrome 9.8
35 spindle cell sarcoma 9.8
36 supratentorial primitive neuroectodermal tumor 9.8
37 mature teratoma 9.8
38 ovarian germ cell teratoma 9.8
39 eye disease 9.8
40 neuroblastoma 9.8
41 neurofibromatosis 9.8
42 intracranial hypertension 9.8
43 47,xyy 9.8
44 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.8
45 glioma 9.8
46 optic pathway glioma 9.8
47 soft tissue sarcoma 9.8
48 angiomatosis 9.8
49 glial tumor 9.8
50 sensory system disease 9.8 RBL1 RB1 E2F3

Graphical network of the top 20 diseases related to Unilateral Retinoblastoma:



Diseases related to Unilateral Retinoblastoma

Symptoms & Phenotypes for Unilateral Retinoblastoma

MGI Mouse Phenotypes related to Unilateral Retinoblastoma:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.16 E2F3 KIF14 MDM4 MYCN RB1 RBL1
2 craniofacial MP:0005382 10.1 E2F3 KIF14 MDM4 MYCN RB1 RBL1
3 mortality/aging MP:0010768 10.06 E2F3 KIF14 MDM4 MYCN RB1 RBL1
4 embryo MP:0005380 10 E2F3 MDM4 MYCN RB1 RBL1 RBL2
5 nervous system MP:0003631 9.97 E2F3 KIF14 MDM4 MYCN RB1 RBL1
6 digestive/alimentary MP:0005381 9.95 E2F3 MDM4 MYCN RB1 RBL1 SIX4
7 limbs/digits/tail MP:0005371 9.91 MDM4 MYCN RB1 RBL1 RBL2 SIX4
8 muscle MP:0005369 9.85 MDM4 MYCN RB1 RBL1 RBL2 SIX4
9 no phenotypic analysis MP:0003012 9.73 E2F3 MYCN RB1 RBL1 RBL2 VSX2
10 normal MP:0002873 9.7 E2F3 MDM4 MYCN RB1 RBL1 RBL2
11 respiratory system MP:0005388 9.35 E2F3 MYCN RB1 RBL1 RBL2
12 vision/eye MP:0005391 9.23 E2F3 KIF14 MYCN RB1 RBL1 RBL2

Drugs & Therapeutics for Unilateral Retinoblastoma

Drugs for Unilateral Retinoblastoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
2
Etoposide Approved Phase 3 33419-42-0 36462
3
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
4
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
5 Tubulin Modulators Phase 3
6 Etoposide phosphate Phase 3
7 Antimitotic Agents Phase 3
8 topoisomerase I inhibitors Phase 3
9
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
10
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
11 Immunosuppressive Agents Phase 2
12 Immunologic Factors Phase 2
13 Alkylating Agents Phase 2
14 Antirheumatic Agents Phase 2
15
Cytarabine Approved, Investigational 147-94-4 6253
16
Mechlorethamine Approved, Investigational 51-75-2 4033
17
Melphalan Approved 148-82-3 4053 460612
18
Phenylalanine Approved, Investigational, Nutraceutical 63-91-2 6140
19 Anti-Infective Agents
20 Antiviral Agents
21 Antimetabolites
22 Nitrogen Mustard Compounds
23
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy Completed NCT00335738 Phase 3 liposomal vincristine sulfate;carboplatin;etoposide
2 GALOP II Protocol for the Treatment of Unilateral Retinoblastoma Recruiting NCT03475121 Phase 3
3 Adjuvant Treatment in Extensive Unilateral Retinoblastoma Primary Enucleated Recruiting NCT02870907 Phase 2 Etoposide;Vincristine;Carboplatin;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Carboplatin;Thiotepa;Vincristine;Cyclophosphamide;Carboplatin;Etoposide;Thiotepa
4 A Data Collection Study to Compare the Outcome for Children With Advanced Unilateral Retinoblastoma Treated With or Without Post-Enucleation Chemotherapy ± Radiotherapy on RB 2005 11 With Historical Controls Receiving no Additional Therapy Unknown status NCT00360750 carboplatin;cytarabine;etoposide;vincristine sulfate
5 A Multi-institutional Feasibility Study of Intra-arterial Chemotherapy Given in the Ophthalmic Artery of Children With Retinoblastoma Active, not recruiting NCT02097134 Melphalan
6 Effect of Treatment Modality on Psychosocial Functioning of Survivors of Unilateral Retinoblastoma Enrolling by invitation NCT03662776

Search NIH Clinical Center for Unilateral Retinoblastoma

Genetic Tests for Unilateral Retinoblastoma

Anatomical Context for Unilateral Retinoblastoma

MalaCards organs/tissues related to Unilateral Retinoblastoma:

40
Eye, Pineal, Spinal Cord, Ovary, Bone Marrow, Bone, Myeloid

Publications for Unilateral Retinoblastoma

Articles related to Unilateral Retinoblastoma:

(show top 50) (show all 303)
# Title Authors PMID Year
1
Unilateral retinoblastoma with reactive orbital inflammation: A case report. 61
33317854 2021
2
Retinoblastoma in an older Hispanic child masquerading as pars planitis: A case report. 61
33567900 2021
3
Clinical characteristics, treatment and prognosis of children with unilateral retinoblastoma and intracranial segment of Retrobulbar optic nerve invasion. 61
33446150 2021
4
Management and Outcomes of Unilateral Group D Tumors in Retinoblastoma. 61
33447011 2021
5
Unilateral retinoblastoma; natural history and an age-based protocol in 248 patients. 61
33188294 2020
6
Medical radiation exposure and risk of sporadic retinoblastoma. 61
32743912 2020
7
Unilateral Retinoblastoma Metastatic to the Skull and Both Orbits. 61
33019985 2020
8
Cell-free DNA profiling in retinoblastoma patients with advanced intraocular disease: An MSKCC experience. 61
32633890 2020
9
Long-Term Clinical Results and Management following Vitrectomy in Undetected Retinoblastoma Eyes. 61
33005613 2020
10
Full-width postlaminar optic nerve tumor invasion of retinoblastoma as risk-factor for leptomeningeal spread of retinoblastoma. A case report and review of the literature. 61
32072844 2020
11
Examinations under anaesthesia as a measure of disease burden in unilateral retinoblastoma: the London experience. 61
30862620 2020
12
Combined intra-arterial chemotherapy and intravitreal melphalan for the treatment of advanced unilateral retinoblastoma. 61
32090035 2020
13
Pars plana vitrectomy under melphalan irrigation for recurrent retinal detachment in eyes treated for retinoblastoma: a case report. 61
31992247 2020
14
Clinical Presentations and Outcomes of Retinoblastoma Patients in relation to the Advent of New Multimodal Treatments: A 12-Year Report from Single Tertiary Referral Institute in Thailand. 61
33005446 2020
15
Quality of Life (QoL) and Psychosocial Outcomes in Adult Survivors of Unilateral Retinoblastoma (RB) in China. 61
32280521 2020
16
Experience of selective intra-arterial chemotherapy for Retinoblastoma. 61
31954049 2020
17
Accuracy of preoperative imaging in predicting optic nerve invasion in retinoblastoma: A retrospective study. 61
31755442 2019
18
Delayed Enucleation With Neoadjuvant Chemotherapy in Advanced Intraocular Unilateral Retinoblastoma: AHOPCA II, a Prospective, Multi-Institutional Protocol in Central America. 61
31536438 2019
19
Study of Unilateral Retinoblastoma With and Without Histopathologic High-Risk Features and the Role of Adjuvant Chemotherapy: A Children's Oncology Group Study. 61
31539297 2019
20
Associations among Socioeconomic Factors, Lag Time, and High-Risk Histopathologic Features in Eyes Primarily Enucleated for Retinoblastoma. 61
31173510 2019
21
Metastases and death rates after primary enucleation of unilateral retinoblastoma in the USA 2007-2017. 61
30361279 2019
22
Conservative treatment of diffuse infiltrating retinoblastoma: optical coherence tomography-assisted diagnosis and follow-up in three consecutive cases. 61
30049803 2019
23
Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1. 61
30963792 2019
24
Spontaneous Regression of Florid Retinal Neovascularization Following Resolution of Traction Retinal Detachment in an Eye With Treated Retinoblastoma. 61
30907974 2019
25
Unilateral retinoblastoma in a patient with Hermansky-Pudlak syndrome. 61
30712445 2019
26
Fluorescein angiography findings in both eyes of a unilateral retinoblastoma case during intra-arterial chemotherapy with melphalan. 61
31850187 2019
27
Retinoblastoma in Sub-Saharan Africa: Case Studies of the Republic of Côte d'Ivoire and the Democratic Republic of the Congo. 61
30241234 2018
28
Unilateral retinoblastoma with contralateral isolated choroidal Melanocytosis: case report of an unexpected presentation. 61
30223826 2018
29
Treatment of Nonmetastatic Unilateral Retinoblastoma in Children. 61
29799944 2018
30
The National Registry of Retinoblastoma in Japan (1983-2014). 61
29846838 2018
31
Vision-Targeted Health-Related Quality of Life in Adult Survivors of Retinoblastoma. 61
29710339 2018
32
Surgical Outcomes in Radiation-induced Cataracts After External-beam Radiotherapy in Retinoblastoma. 61
29988860 2018
33
Lack of correlation between age at diagnosis and RB1 mutations for unilateral retinoblastoma: the importance of genetic testing. 61
29286867 2018
34
MONTE CARLO SIMULATION OF OUT-OF-FIELD ORGAN DOSES AND CANCER RISK IN TANZANIA FOR RADIATION THERAPY OF UNILATERAL RETINOBLASTOMA USING A 60Co UNIT. 61
29216393 2018
35
Retinoblastoma and optic nerve enhancement in a brain magnetic resonance scan: is it always a metastasis? 61
29277434 2018
36
Maternal Residential Proximity to Major Roadways and Pediatric Embryonal Tumors in Offspring. 61
29533992 2018
37
Coats' disease - disease of the eye rarely encountered by pathologists. 61
29567893 2018
38
Metastatic retinoblastoma of the parotid and submandibular glands: a rare case report. 61
29197363 2017
39
Epidemiological trends in 1452 cases of retinoblastoma from the Surveillance, Epidemiology, and End Results (SEER) registry. 61
29217028 2017
40
Retrobulbar ocular blood flow changes measured by colour Doppler imaging after intra-arterial chemotherapy in retinoblastoma. 61
28228407 2017
41
Gorlin-Goltz syndrome. 61
29062253 2017
42
Prediagnostic Intervals in Retinoblastoma: Experience at an Oncology Center in Brazil. 61
28831440 2017
43
Mature Ovarian Teratoma After Treatment for Unilateral Retinoblastoma With Nonmutated RB1. 61
28719514 2017
44
First-line intra-arterial versus intravenous chemotherapy in unilateral sporadic group D retinoblastoma: evidence of better visual outcomes, ocular survival and shorter time to success with intra-arterial delivery from retrospective review of 20 years of treatment. 61
27927678 2017
45
Second Primary Rhabdomyosarcoma in Nonhereditary Unilateral Retinoblastoma Not Treated with Radiotherapy. 61
28682022 2017
46
The value of MRI in evaluating the efficacy and complications with the treatment of intra-arterial chemotherapy for retinoblastoma. 61
28415600 2017
47
Optical Coherence Tomography-Guided Decisions in Retinoblastoma Management. 61
28318638 2017
48
Clinical presentation of retinoblastoma in Alexandria: A step toward earlier diagnosis. 61
28559718 2017
49
Residential Pesticide Exposures in Pregnancy and the Risk of Sporadic Retinoblastoma: A Report From the Children's Oncology Group. 61
28131887 2017
50
Presenting signs of retinoblastoma at a tertiary level teaching hospital in Ethiopia. 61
29230267 2017

Variations for Unilateral Retinoblastoma

Expression for Unilateral Retinoblastoma

Search GEO for disease gene expression data for Unilateral Retinoblastoma.

Pathways for Unilateral Retinoblastoma

Pathways related to Unilateral Retinoblastoma according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 RBL2 RBL1 RB1 MDM4 E2F3
2
Show member pathways
12.66 RBL2 RBL1 RB1 LPAR6
3
Show member pathways
12.25 RBL2 RBL1 RB1 E2F3
4 12.12 RBL2 RBL1 RB1
5 12.06 RBL2 RBL1 RB1 E2F3
6
Show member pathways
12.02 RBL2 RBL1 RB1 E2F3
7 11.98 RBL2 RBL1 RB1
8 11.75 RBL2 RBL1 RB1
9 11.75 RBL2 RBL1 RB1 E2F3
10
Show member pathways
11.21 RBL2 RBL1 RB1
11 11.12 RBL2 RBL1 RB1 E2F3
12 11.02 MDM4 E2F3
13
Show member pathways
10.85 RBL2 RBL1 RB1 E2F3
14 10.84 RB1 E2F3
15 10.54 RBL2 RBL1 RB1

GO Terms for Unilateral Retinoblastoma

Cellular components related to Unilateral Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.91 VSX2 SIX4 RBL2 RBL1 RB1 MYCN
2 chromatin GO:0000785 9.5 VSX2 SIX4 RBL2 RBL1 RB1 MYCN
3 spindle GO:0005819 9.33 RB1 KIF14 CEP170
4 transcription factor complex GO:0005667 9.02 SIX4 RBL2 RBL1 RB1 E2F3

Biological processes related to Unilateral Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.85 VSX2 SIX4 RB1 MYCN E2F3
2 cell cycle GO:0007049 9.73 RBL2 RBL1 RB1 E2F3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.73 SIX4 RBL1 RB1 MYCN MDM4 E2F3
4 negative regulation of gene expression GO:0010629 9.62 RBL2 RBL1 RB1 MYCN
5 regulation of cell cycle GO:0051726 9.58 RBL2 RBL1 RB1
6 regulation of transcription by RNA polymerase II GO:0006357 9.56 VSX2 SIX4 RBL2 RBL1 RB1 MYCN
7 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest GO:0006977 9.48 RBL2 MDM4
8 regulation of cell division GO:0051302 9.37 RBL2 RBL1
9 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.33 RBL2 RBL1 RB1
10 regulation of lipid kinase activity GO:0043550 8.8 RBL2 RBL1 RB1

Molecular functions related to Unilateral Retinoblastoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.8 VSX2 SIX4 RBL2 RB1 MYCN E2F3
2 sequence-specific double-stranded DNA binding GO:1990837 9.56 VSX2 SIX4 MYCN E2F3
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.46 SIX4 MYCN MDM4 E2F3
4 RNA polymerase II activating transcription factor binding GO:0001102 9.13 RBL2 RBL1 RB1
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.02 VSX2 RBL2 RBL1 RB1 E2F3

Sources for Unilateral Retinoblastoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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